Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Analytical Biochemistry · 1987 · 63.3K citations

Life Sciences, Biochemistry, Molecular Biology +12

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

Piotr Chomczyński, Nicoletta Sacchi · Analytical Biochemistry · 1987 · 46.9K citations

Life Sciences, Biochemistry, Molecular Biology +12

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

Wolfgang von Scheidt, Christine M. Eng, Thomas Fitzmaurice et al. · New England Journal of Medicine · 1991 · 368 citations · Full text

Medicine, Biochemistry, Cardiology +14

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

Jary S. Mayes, Julia B. Scheerer, Richard N. Sifers et al. · Clinica Chimica Acta · 1981 · 219 citations

Life Sciences, Biochemistry, Molecular Biology +11